Spondyloperipheral Dysplasia

About the Disease
Spondyloperipheral Dysplasia, also known as spondyloperipheral dysplasia-short ulna syndrome, is related to platyspondylic lethal skeletal dysplasia, torrance type and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone, and related phenotypes are hearing impairment and cleft palate

Common Targets
COL2A1

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